Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47330388_47335387del | CA2740090117 | |||
11 | g.47332223del | CA16613340 | MYBPC3 | c.3665del (p.Gly1222GlufsTer15) c.3647del (p.Gly1216GlufsTer15) c.3584del (p.Gly1195GlufsTer15) | ClinVar dbSNP |
11 | g.47332223C>A | CA474428910 | MYBPC3 | c.3663G>T (p.Leu1221=) c.3645G>T (p.Leu1215=) c.3582G>T (p.Leu1194=) | |
11 | g.47332223C= | CA1969333526 | MYBPC3 | c.3663G= (p.Leu1221=) c.3645G= (p.Leu1215=) c.3582G= (p.Leu1194=) | |
11 | g.47332223C>G | CA474428908 | MYBPC3 | c.3663G>C (p.Leu1221=) c.3645G>C (p.Leu1215=) c.3582G>C (p.Leu1194=) | |
11 | g.47332223C>T | CA474428909 | MYBPC3 | c.3663G>A (p.Leu1221=) c.3645G>A (p.Leu1215=) c.3582G>A (p.Leu1194=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332223_47332224delinsCA | CA1969333530 | MYBPC3 | c.3662_3663delinsTG (p.Leu1221=) c.3644_3645delinsTG (p.Leu1215=) c.3581_3582delinsTG (p.Leu1194=) | |
11 | g.47332223_47332227delinsCAGGT | CA1969333529 | MYBPC3 | c.3659_3663delinsACCTG (p.Asp1220=) c.3641_3645delinsACCTG (p.Asp1214=) c.3578_3582delinsACCTG (p.Asp1193=) | |
11 | g.47332223_47332243delinsCAGGTCCAGGCCATTCTTGAA | CA1969333527 | MYBPC3 | c.3643_3663delinsTTCAAGAATGGCCTGGACCTG (p.Phe1215=) c.3625_3645delinsTTCAAGAATGGCCTGGACCTG (p.Phe1209=) c.3562_3582delinsTTCAAGAATGGCCTGGACCTG (p.Phe1188=) | |
11 | g.47332224del | CA279321 | MYBPC3 | c.3662del (p.Leu1221ArgfsTer16) c.3644del (p.Leu1215ArgfsTer16) c.3581del (p.Leu1194ArgfsTer16) | ClinVar dbSNP |
11 | g.47332224A= | CA1969333535 | MYBPC3 | c.3662T= (p.Leu1221=) c.3644T= (p.Leu1215=) c.3581T= (p.Leu1194=) | |
11 | g.47332224A>C | CA380311698 | MYBPC3 | c.3662T>G (p.Leu1221Arg) c.3644T>G (p.Leu1215Arg) c.3581T>G (p.Leu1194Arg) | |
11 | g.47332224A>G | CA380311701 | MYBPC3 | c.3662T>C (p.Leu1221Pro) c.3644T>C (p.Leu1215Pro) c.3581T>C (p.Leu1194Pro) | ClinVar dbSNP gnomAD v4 |
11 | g.47332224A>T | CA380311704 | MYBPC3 | c.3662T>A (p.Leu1221Gln) c.3644T>A (p.Leu1215Gln) c.3581T>A (p.Leu1194Gln) | |
11 | g.47332224_47332227del | CA2695213903 | MYBPC3 | c.3659_3662del (p.Asp1220GlyfsTer16) c.3641_3644del (p.Asp1214GlyfsTer16) c.3578_3581del (p.Asp1193GlyfsTer16) | |
11 | g.47332224_47332227delinsGCCATTCTTGAA | CA10602350 | MYBPC3 | c.3659_3662delinsTTCAAGAATGGC (p.Asp1220ValfsTer20) c.3641_3644delinsTTCAAGAATGGC (p.Asp1214ValfsTer20) c.3578_3581delinsTTCAAGAATGGC (p.Asp1193ValfsTer20) | ClinVar dbSNP |
11 | g.47332224_47332243delinsCAAGAATGGC | CA918872511 | MYBPC3 | c.3643_3662delinsGCCATTCTTG (p.Phe1215AlafsTer19) c.3625_3644delinsGCCATTCTTG (p.Phe1209AlafsTer19) c.3562_3581delinsGCCATTCTTG (p.Phe1188AlafsTer19) | dbSNP |
11 | g.47332225G>A | CA474428911 | MYBPC3 | c.3661C>T (p.Leu1221=) c.3643C>T (p.Leu1215=) c.3580C>T (p.Leu1194=) | |
11 | g.47332225G>C | CA380311708 | MYBPC3 | c.3661C>G (p.Leu1221Val) c.3643C>G (p.Leu1215Val) c.3580C>G (p.Leu1194Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332225G= | CA1969333538 | MYBPC3 | c.3661C= (p.Leu1221=) c.3643C= (p.Leu1215=) c.3580C= (p.Leu1194=) | |
11 | g.47332225G>T | CA380311711 | MYBPC3 | c.3661C>A (p.Leu1221Met) c.3643C>A (p.Leu1215Met) c.3580C>A (p.Leu1194Met) | |
11 | g.47332226G>A | CA474428912 | MYBPC3 | c.3660C>T (p.Asp1220=) c.3642C>T (p.Asp1214=) c.3579C>T (p.Asp1193=) | gnomAD v4 |
11 | g.47332226G>C | CA380311714 | MYBPC3 | c.3660C>G (p.Asp1220Glu) c.3642C>G (p.Asp1214Glu) c.3579C>G (p.Asp1193Glu) | |
11 | g.47332226G>T | CA380311717 | MYBPC3 | c.3660C>A (p.Asp1220Glu) c.3642C>A (p.Asp1214Glu) c.3579C>A (p.Asp1193Glu) | |
11 | g.47332227T>A | CA380311726 | MYBPC3 | c.3659A>T (p.Asp1220Val) c.3641A>T (p.Asp1214Val) c.3578A>T (p.Asp1193Val) | |
11 | g.47332227T>C | CA380311731 | MYBPC3 | c.3659A>G (p.Asp1220Gly) c.3641A>G (p.Asp1214Gly) c.3578A>G (p.Asp1193Gly) | |
11 | g.47332227T>G | CA380311723 | MYBPC3 | c.3659A>C (p.Asp1220Ala) c.3641A>C (p.Asp1214Ala) c.3578A>C (p.Asp1193Ala) | ClinVar |
11 | g.47332228C>A | CA380311736 | MYBPC3 | c.3658G>T (p.Asp1220Tyr) c.3640G>T (p.Asp1214Tyr) c.3577G>T (p.Asp1193Tyr) | |
11 | g.47332228C= | CA1969333543 | MYBPC3 | c.3658G= (p.Asp1220=) c.3640G= (p.Asp1214=) c.3577G= (p.Asp1193=) | |
11 | g.47332228C>G | CA380311738 | MYBPC3 | c.3658G>C (p.Asp1220His) c.3640G>C (p.Asp1214His) c.3577G>C (p.Asp1193His) | |
11 | g.47332228C>T | CA380311740 | MYBPC3 | c.3658G>A (p.Asp1220Asn) c.3640G>A (p.Asp1214Asn) c.3577G>A (p.Asp1193Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332229C>A | CA079493 | MYBPC3 | c.3657G>T (p.Leu1219=) c.3639G>T (p.Leu1213=) c.3576G>T (p.Leu1192=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332229C= | CA1969333549 | MYBPC3 | c.3657G= (p.Leu1219=) c.3639G= (p.Leu1213=) c.3576G= (p.Leu1192=) | |
11 | g.47332229C>G | CA474428913 | MYBPC3 | c.3657G>C (p.Leu1219=) c.3639G>C (p.Leu1213=) c.3576G>C (p.Leu1192=) | |
11 | g.47332229C>T | CA474428914 | MYBPC3 | c.3657G>A (p.Leu1219=) c.3639G>A (p.Leu1213=) c.3576G>A (p.Leu1192=) | |
11 | g.47332230A= | CA1969333551 | MYBPC3 | c.3656T= (p.Leu1219=) c.3638T= (p.Leu1213=) c.3575T= (p.Leu1192=) | |
11 | g.47332230A>C | CA380311759 | MYBPC3 | c.3656T>G (p.Leu1219Arg) c.3638T>G (p.Leu1213Arg) c.3575T>G (p.Leu1192Arg) | |
11 | g.47332230A>G | CA380311754 | MYBPC3 | c.3656T>C (p.Leu1219Pro) c.3638T>C (p.Leu1213Pro) c.3575T>C (p.Leu1192Pro) | dbSNP gnomAD v4 |
11 | g.47332230A>T | CA380311751 | MYBPC3 | c.3656T>A (p.Leu1219Gln) c.3638T>A (p.Leu1213Gln) c.3575T>A (p.Leu1192Gln) | |
11 | g.47332231G>A | CA474428915 | MYBPC3 | c.3655C>T (p.Leu1219=) c.3637C>T (p.Leu1213=) c.3574C>T (p.Leu1192=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332231G>C | CA380311760 | MYBPC3 | c.3655C>G (p.Leu1219Val) c.3637C>G (p.Leu1213Val) c.3574C>G (p.Leu1192Val) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332231G= | CA1969333563 | MYBPC3 | c.3655C= (p.Leu1219=) c.3637C= (p.Leu1213=) c.3574C= (p.Leu1192=) | |
11 | g.47332231G>T | CA380311761 | MYBPC3 | c.3655C>A (p.Leu1219Met) c.3637C>A (p.Leu1213Met) c.3574C>A (p.Leu1192Met) | |
11 | g.47332232G>A | CA054638 | MYBPC3 | c.3654C>T (p.Gly1218=) c.3636C>T (p.Gly1212=) c.3573C>T (p.Gly1191=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332232G>C | CA474428916 | MYBPC3 | c.3654C>G (p.Gly1218=) c.3636C>G (p.Gly1212=) c.3573C>G (p.Gly1191=) | |
11 | g.47332232G= | CA1969333569 | MYBPC3 | c.3654C= (p.Gly1218=) c.3636C= (p.Gly1212=) c.3573C= (p.Gly1191=) | |
11 | g.47332232G>T | CA474428917 | MYBPC3 | c.3654C>A (p.Gly1218=) c.3636C>A (p.Gly1212=) c.3573C>A (p.Gly1191=) | |
11 | g.47332233C>A | CA380311766 | MYBPC3 | c.3653G>T (p.Gly1218Val) c.3635G>T (p.Gly1212Val) c.3572G>T (p.Gly1191Val) | |
11 | g.47332233C>G | CA380311769 | MYBPC3 | c.3653G>C (p.Gly1218Ala) c.3635G>C (p.Gly1212Ala) c.3572G>C (p.Gly1191Ala) | ClinVar dbSNP |
11 | g.47332233C>T | CA380311771 | MYBPC3 | c.3653G>A (p.Gly1218Asp) c.3635G>A (p.Gly1212Asp) c.3572G>A (p.Gly1191Asp) |